225 related articles for article (PubMed ID: 28755192)
1. Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
Giguère Y; Berthier MT
Adv Exp Med Biol; 2017; 959():139-146. PubMed ID: 28755192
[TBL] [Abstract][Full Text] [Related]
2. Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.
De Jesús VR; Adam BW; Mandel D; Cuthbert CD; Matern D
Mol Genet Metab; 2014; 113(1-2):67-75. PubMed ID: 25066104
[TBL] [Abstract][Full Text] [Related]
3. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots.
Allard P; Grenier A; Korson MS; Zytkovicz TH
Clin Biochem; 2004 Nov; 37(11):1010-5. PubMed ID: 15498530
[TBL] [Abstract][Full Text] [Related]
4. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
Magera MJ; Gunawardena ND; Hahn SH; Tortorelli S; Mitchell GA; Goodman SI; Rinaldo P; Matern D
Mol Genet Metab; 2006 May; 88(1):16-21. PubMed ID: 16448836
[TBL] [Abstract][Full Text] [Related]
5. Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I.
Schulze A; Frommhold D; Hoffmann GF; Mayatepek E
Clin Chem; 2001 Aug; 47(8):1424-9. PubMed ID: 11468232
[TBL] [Abstract][Full Text] [Related]
6. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
Aponte JL; Sega GA; Hauser LJ; Dhar MS; Withrow CM; Carpenter DA; Rinchik EM; Culiat CT; Johnson DK
Proc Natl Acad Sci U S A; 2001 Jan; 98(2):641-5. PubMed ID: 11209059
[TBL] [Abstract][Full Text] [Related]
7. Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
Blackburn PR; Hickey RD; Nace RA; Giama NH; Kraft DL; Bordner AJ; Chaiteerakij R; McCormick JB; Radulovic M; Graham RP; Torbenson MS; Tortorelli S; Scott CR; Lindor NM; Milliner DS; Oglesbee D; Al-Qabandi W; Grompe M; Gavrilov DK; El-Youssef M; Clark KJ; Atwal PS; Roberts LR; Klee EW; Ekker SC
Hum Mutat; 2016 Oct; 37(10):1097-105. PubMed ID: 27397503
[TBL] [Abstract][Full Text] [Related]
8. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
Ijaz S; Zahoor MY; Imran M; Afzal S; Bhinder MA; Ullah I; Cheema HA; Ramzan K; Shehzad W
J Pediatr Endocrinol Metab; 2016 Mar; 29(3):327-32. PubMed ID: 26565546
[TBL] [Abstract][Full Text] [Related]
9. Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton C; Geppert J; Freeman K; Clarke A; Johnson S; Fraser H; Sutcliffe P; Taylor-Phillips S
Orphanet J Rare Dis; 2017 Mar; 12(1):48. PubMed ID: 28274233
[TBL] [Abstract][Full Text] [Related]
10. The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.
la Marca G; Malvagia S; Pasquini E; Innocenti M; Fernandez MR; Donati MA; Zammarchi E
Rapid Commun Mass Spectrom; 2008; 22(6):812-8. PubMed ID: 18278819
[TBL] [Abstract][Full Text] [Related]
11. [Screening for hereditary tyrosinemia and genotype analysis in newborns].
Tong F; Yang R; Liu C; Wu D; Zhang T; Huang X; Hong F; Qian G; Huang X; Zhou X; Shu Q; Zhao Z
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2019 Jun; 48(4):459-464. PubMed ID: 31901053
[TBL] [Abstract][Full Text] [Related]
12. The Québec NTBC Study.
; Alvarez F; Atkinson S; Bouchard M; Brunel-Guitton C; Buhas D; Bussières JF; Dubois J; Fenyves D; Goodyer P; Gosselin M; Halac U; Labbé P; Laframboise R; Maranda B; Melançon S; Merouani A; Mitchell GA; Mitchell J; Parizeault G; Pelletier L; Phan V; Turcotte JF
Adv Exp Med Biol; 2017; 959():187-195. PubMed ID: 28755196
[TBL] [Abstract][Full Text] [Related]
13. A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.
Rokaitė R; Čibirkaitė A; Zeleckytė V; Lazdinytė G; Dženkaitis M
Medicina (Kaunas); 2024 Jan; 60(1):. PubMed ID: 38256395
[TBL] [Abstract][Full Text] [Related]
14. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
Grompe M; St-Louis M; Demers SI; al-Dhalimy M; Leclerc B; Tanguay RM
N Engl J Med; 1994 Aug; 331(6):353-7. PubMed ID: 8028615
[TBL] [Abstract][Full Text] [Related]
15. [Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].
Han LS; Ye J; Qiu WJ; Zhang HW; Wang Y; Ji WJ; Gao XL; Li XY; Jin J; Gu XF
Zhonghua Er Ke Za Zhi; 2012 Feb; 50(2):126-30. PubMed ID: 22455637
[TBL] [Abstract][Full Text] [Related]
16. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.
Turgeon C; Magera MJ; Allard P; Tortorelli S; Gavrilov D; Oglesbee D; Raymond K; Rinaldo P; Matern D
Clin Chem; 2008 Apr; 54(4):657-64. PubMed ID: 18281422
[TBL] [Abstract][Full Text] [Related]
17. Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine.
Metz TF; Mechtler TP; Merk M; Gottschalk A; Lukačin R; Herkner KR; Kasper DC
Clin Chim Acta; 2012 Aug; 413(15-16):1259-64. PubMed ID: 22521492
[TBL] [Abstract][Full Text] [Related]
18. Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia.
Grenier A; Lescault A; Laberge C; Gagné R; Mamer O
Clin Chim Acta; 1982 Aug; 123(1-2):93-9. PubMed ID: 7116642
[TBL] [Abstract][Full Text] [Related]
19. Hepatorenal Tyrosinemia in Mexico: A Call to Action.
Ibarra-González I; Ridaura-Sanz C; Fernández-Lainez C; Guillén-López S; Belmont-Martínez L; Vela-Amieva M
Adv Exp Med Biol; 2017; 959():147-156. PubMed ID: 28755193
[TBL] [Abstract][Full Text] [Related]
20. A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I.
Cyr D; Giguère R; Villain G; Lemieux B; Drouin R
J Chromatogr B Analyt Technol Biomed Life Sci; 2006 Feb; 832(1):24-9. PubMed ID: 16414314
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]